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lüll Understanding familial and non-familial renal cell cancer Bodmer D; van den Hurk W; van Groningen JJ; Eleveld MJ; Martens GJ; Weterman MA; van Kessel AGHum Mol Genet 2002[Oct]; 11 (20): 2489-98Molecular genetic analysis of familial and non-familial cases of conventional renal cell carcinoma (RCC) revealed a critical role(s) for multiple genes on human chromosome 3. For some of these genes, e.g. VHL, such a role has been firmly established, whereas for others, definite confirmation is still pending. Additionally, a novel role for constitutional chromosome 3 translocations as risk factors for conventional RCC development is rapidly emerging. Also, several candidate loci have been mapped to other chromosomes in both familial and non-familial RCCs of distinct histologic subtypes. The MET gene on chromosome 7, for example, was found to be involved in both forms of papillary RCC. A PRCC-TFE3 fusion gene is typically encountered in t(X;1)-positive non-familial papillary RCCs and results in abrogation of the cell cycle mitotic spindle checkpoint in a dominant-negative fashion, thus leading to RCC. Together, these data turn human RCC into a model system in which different aspects of both familial and non-familial syndromes may act as novel paradigms for cancer development.|*Tumor Suppressor Proteins[MESH]|*Ubiquitin-Protein Ligases[MESH]|Carcinoma, Renal Cell/*genetics[MESH]|Chromosomes, Human, Pair 3[MESH]|Genetic Diseases, Inborn/*genetics[MESH]|Humans[MESH]|Kidney Neoplasms/*genetics[MESH]|Ligases/genetics[MESH]|Translocation, Genetic[MESH]|Von Hippel-Lindau Tumor Suppressor Protein[MESH] |